Introduction:

Celiac disease is a caused by a permanent sensitivity to gluten, which results mainly in functional disorders of the small intestine. To successfully diagnose of celiac disease, it is necessary to properly convey four criteria: clinic, histological, serological and molecular. The insufficient utilization of them in the medical practice could conduce to false diagnosis of celiac disease.

Objective:

To demonstrate the occurrence of mistaken diagnoses of celiac disease when the four criteria are not properly addressed.

Methods:

Forty-six children were diagnosed with celiac disease based on clinical and histopathological criteria and remitted to the “Hermanos Ameijeiras” Hospital´s Molecular Genetics service. In order to complete the serological and molecular diagnosis procedure, there were detected antitransglutaminase antibodies after gluten ingestion, and HLA DQ2/HLA DQ8 alleles in every child. Individuals who met the four criteria were considered celiac disease patients.

Results:

The analysis of 46 patients showed that 13 (28.3%) where negative to the presence of both allele HLA DQ2/HLA DQ8, and hence negative for celiac disease diagnosis. Eight patients (17.39%) where HLA DQ2/HLA DQ8 positive and antitransglutaminase antibodies negative, so they were considered as negative for diagnosis of celiac disease. According to our results, 21 patients (45.7%) were mistakenly diagnosed. The remaining 25 patients (54.3%) where positive for all diagnosis criteria.

Conclusions:

In order to successfully diagnose of celiac disease, in addition to clinical and histopathological tools used in the network of pediatrics hospitals in the country, it is necessary to include the serological and molecular method.

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